参考文献/References:
[1] Wolf S,Barco S,Di Nisio M,et al. Epidemiology of deep vein thrombosis[J]. Vasa,2024,53(5):298-307.
[2] Thibord F,Klarin D,Brody JA,et al. Cross-ancestry investigation of venous thromboembolism genomic predictors[J]. Circulation,2022,146(16):1225-1242.
[3] Ghouse J,Tragante V,Ahlberg G,et al. Genome-wide meta-analysis identifies 93 risk loci and enables risk prediction equivalent to monogenic forms of venous thromboembolism[J]. Nat Genet,2023,55(3):399-409.
[4] Huang Y,Wang Y,Wang X,et al. Multiple venous thromboembolisms in a pregnant patient carrying a novel mutation in SERPINC1 (p.M313T) that causes a transient antithrombin deficiency:a case report[J]. Thromb J,2023,21(1):123.
[5] Natae SF,Kósa Z,Sándor J,et al. The higher prevalence of venous thromboembolism in the hungarian roma population could be due to elevated genetic risk and stronger gene-environmental interactions[J]. Front Cardiovasc Med,2021,8:647416.
[6] Feng H,Mancuso N,Gusev A,et al. Leveraging expression from multiple tissues using sparse canonical correlation analysis and aggregate tests improves the power of transcriptome-wide association studies[J]. PLoS Genet,2021,17(4):e1008973.
[7] Giambartolomei C,Vukcevic D,Schadt EE,et al. Bayesian test for colocalisation between pairs of genetic association studies using summary statistics[J]. PLoS Genet,2014,10(5):e1004383.
[8] Mancuso N,Freund MK,Johnson R,et al. Probabilistic fine-mapping of transcriptome-wide association studies[J]. Nat Genet,2019,51(4):675-682.
[9] Dall’Aglio L,Lewis CM,Pain O. Delineating the genetic component of gene expression in major depression[J]. Biol Psychiatry,2021,89(6):627-636.
[10] Subramanian A,Tamayo P,Mootha VK,et al. Gene set enrichment analysis:a knowledge-based approach for interpreting genome-wide expression profiles[J]. Proc Natl Acad Sci USA,2005,102(43):15545-15550
[11] Watanabe K,Taskesen E,Van Bochoven A,et al. Functional mapping and annotation of genetic associations with FUMA[J]. Nat Commun,2017,8(1):1826.
[12] Fautrad P,Thomas GM,Morange PE. The missing heritability of venous thrombosis:what about factor V Leiden heterogeneity? [J]. J Thromb Haemost ,2018,16 (11):2125-2127.
[13] Crous-Bou M,Harrington LB,Kabrhel C. Environmental and genetic risk factors associated with venous thromboembolism[J]. Semin Thromb Hemost,2016,42 (8):808-820.
[14] Xu J,Ren Q,Su Y,et al. Frailty,genetic risk,and long-term risk of venous thromboembolism:insight from a UK Biobank Study[J]. Am J Hematol,2025,100 (9):1523-1532.
[15] Tavares V,Pinto R,Assis J,et al. Venous thromboembolism GWAS reported genetic makeup and the hallmarks of cancer:Linkage to ovarian tumour behaviour[J]. Biochim Biophys Acta Rev Cancer,2020,1873(1):188331.
[16] Klarin D,Busenkell E,Judy R,et al. Genome-wide association analysis of venous thromboembolism identifies new risk loci and genetic overlap with arterial vascular disease[J]. Nat Genet,2019,51(11):1574-1579.
[17] A?ssi D,Dennis J,Ladouceur M,et al. Genome-wide investigation of DNA methylation marks associated with FV Leiden mutation [J] . PLoS One,2014,9 (9):e108087.
[18] Gu H,Li M,Xie H,et al. Correlation between serum MMP-2/-16 levels and inflammation in patients with deep vein thrombosis[J]. Clin Lab,2023,69(12).
[19] Luo J,Zhou J,Luo JZ,et al. Inhibiting MMP13 attenuates deep vein thrombosis in a mouse model by reducing the expression of Pdpn[J]. Curr Med Sci,2024,44(2):369-379.
[20] Kwon JH,Kim SH. YBX1 promotes epithelial-mesenchymal transition in hepatocellular carcinoma via transcriptional regulation of PLRG1[J]. Med Oncol,2024,41(11):280.
[21] Paez Espinosa EV,Lin OA,Karim ZA,et al. Mouse transient receptor potential channel type 6 selectively regulates agonist-induced platelet function[J]. Biochem Biophys Rep,2019,20:100685.